ClinVar Miner

Submissions for variant NM_025136.4(OPA3):c.478C>T (p.Arg160Cys) (rs137978109)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727520 SCV000616815 uncertain significance not provided 2018-07-30 criteria provided, single submitter clinical testing The R160C variant in the OPA3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R160C variant is observed in 99/23490 (0.42%) alleles from individuals of African background, in the ExAC dataset (Lek et al., 2016). The R160C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is not conserved. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R160C as a variant of uncertain significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727520 SCV000709437 uncertain significance not provided 2017-06-20 criteria provided, single submitter clinical testing
Invitae RCV001081928 SCV001033171 likely benign 3-Methylglutaconic aciduria type 3; Optic atrophy 3 2019-12-31 criteria provided, single submitter clinical testing

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